Hepatolenticular degeneration; review of the literature and report of a case with dimercaprol (BAL) therapy.
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Non-random X-chromosome inactivation (XCI) is often seen in female carriers of balanced X-autosome translocations and is generally attributed to a selective growth of cells that inactivate the normal X chromosome. However, little is known concerning when in development the selection acts, and thus whether skewed XCI would also be seen in placental tissues. Furthermore, as males with X-autosome translocations are normally infertile, all translocations studied to date for XCI-skewing have been either maternal or de novo in origin. We now present an analysis of XCI status in cord blood, umbilical cord and four different extraembryonic tissues from a female carrier of a paternally derived balanced (X;20) translocation. Using methylation based assays to determine XCI status, we found preferential inactivation of the non-translocated X in cord blood, umbilical cord and amnion samples of the propositus. Remarkably, random XCI was evident in several placental tissues analyzed (chorion, and chorionic villi trophoblast and mesenchyme). While these findings support the hypothesis of strong selection against cells with an inactive translocated X-chromosome in most embryonic/fetal tissues, they also suggest weaker selective forces taking place during placental development. Additionally, the finding of normal placental development in the present case, rules out the possibility of a parental bias to XCI in human extraembryonic tissues as a requisite for normal development. The finding of hypomethylation in extraembryonic tissues for two out of three markers used in the study is consistent with previous findings demonstrating low levels of methylation in these tissues.
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The objective of this work was to test and compare different techniques used in tests for compatibility between the entomopathogenic fungus Beauveria bassiana (Balsamo) Vuill and phytosanitary products, in order to develop a protocol for in vitro tests. Four modes of contact were studied between B bassiana (CG432) and the fungicides iprodione (Rovral) 500 g litre(-1) SC) and azoxystrobin (Amistar) 500 g kg(-1) WG), and the insecticide endosulfan (Thiodan) 350 g litre(-1) EC), at three rates. The techniques consisted in incorporating the products into the culture medium (IM), combining the conidia into the products mix (MP) and spraying the products before (SB) and after (SA) inoculation of the fungus on Petri dishes. The fungitoxic effect of the products was studied on the basis of parameters such as germination, colony-forming units (CFUs), vegetative growth and sporulation. The effect of azoxystrobin on conidial germination was significantly higher in the IM technique than in the other techniques. With regard to CFUs, the IM and SB techniques showed the greatest differences relative to the control. Vegetative growth and sporulation were more affected when azoxystrobin was sprayed before the fungus was applied. At the commercial rate, iprodione had a greater effect on the CFU parameter in the IM and MP techniques, and on vegetative growth in the IM technique, than the other techniques used; however, there was no significant difference occurred between the techniques at the commercial rate with respect to germination and sporulation. Endosulfan was more toxic to germination in techniques SB and SA, and to the CFUs parameter in techniques IM and MP. As to vegetative growth and sporulation, regardless of rate, a more pronounced effect was observed in IM than in the other techniques. It can be inferred that there are differences between techniques and that a standardization of the compatibility tests is necessary. Another inference is that these techniques should reflect realistic exposure of the fungus to chemical formulations under field conditions.
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Genetic studies to localize auxotrophic markers and resistance to benomyl fungicide and to analyze gene transfer on the Beauveria bassiana deuteromycete were carried out using the parasexual cycle. Parasexual crosses among strains with complementary genetic markers resulted in vigorous heterocaryons. Selection of the segregant products was made using two methodologies: total isolation and parental elimination. Colonies with recombinant traits were recovered directly from the heterocaryon in all crosses, and no diploid colony was isolated. This shows the high instability of the diploid nucleus in this species. Among the parasexual segregant products preferential recovery of markers in one of the parental strains involved in the crosses was detected, probably because of an inhibition of conidiogenesis from one parental strain to another. Genetic markers were localized in four linkage groups by the parasexual crosses. In the first group markers nic4, nic3, thi2, bio3, ade2, ths2, and ben1R were localized; in the second, the marker met1; in the third, pab1; and in the fourth, bio1. The parental strain 196/A11/3 is a carrier of translocation among the linkage groups I and III.
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